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NARP syndrome

Disease definition

Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.

ORPHA:644

  • Synonym(s):
    • Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome
    • Neuropathy-ataxia-retinitis pigmentosa syndrome
  • Prevalence: 1-9 / 100 000
  • Inheritance: Mitochondrial inheritance 
  • Age of onset: Childhood
  • ICD-10: G31.8
  • OMIM: 551500
  • UMLS: C1328349
  • MeSH: -
  • GARD: 262
  • MedDRA: 10062940

Detailed information

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